Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In order to overcome various drawbacks of the conventional polygraphic study of a relationship between myoclonus and EEG, the EEG preceding and following the myoclonic jerk was simultaneously averaged by the CNV program. The subjects were 7 patients presenting with myoclonus of various kinds. The conventional polygraphs showed various paroxysmal EEG activities in 4 patients, but none of those paroxysmal activities was temporally related to myoclonus except for one case. As a result of the present averaging technique, 2 patients with cerebellar ataxia with intention myoclonus showed myoclonus-related EEG spikes or spike-and-slow-waves in the contralateral central or centroparietal region. These myoclonus-related spikes preceded the myoclonus by 10-17 msec, suggesting the presence of a discharging focus in the deep cerebral structures, rather than in the cerebral cortex, in these cases. Two other patients, one with resting myoclonus and the other with postural myoclonus, showed myoclonus-related slow waves on the contralateral hemisphere. This previously undescribed method of averaged polygraphic recording will be very useful in detecting an EEG correlate of spontaneously occurring myoclonus.
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PMID:Electroencephalographic correlates of myoclonus. 5 38

A case of adult type mucolipidosis with beta-galactosidase and sialidase deficiency is described. This patient, a woman aged 20, had mental retardation, macular cherry-red spots, corneal clouding, gargoyle-like face, cerebellar ataxia, myoclonus and convulsions beginning at the age of 14. Bony deformities, vacuoles in the peripheral lymphocyte and foamy cells in the bone marrow were also noted. Biopsy study of the sural nerve and vermiform appendix disclosed many vacuoles in almost every kind of cells, although the accumulated substance in these vacuoles could not be characterized histochemically or ultrastructurally. Deficient leukocyte beta-galactosidase and sialidase were confirmed. There was increased urinary sialoglycopeptide and increased siliac acid and hexosamine in the glycoprotein of lymphocytes. Leukocytes sialidase activites of the parents were 30 to 50% of the control values. These results suggest a genetic defect of sialidase.
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PMID:Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies. 9 67

We describe 2 brothers with progressive myoclonus epilepsy that began in the second decade and was associated with cerebellar ataxia and intellectual deterioration. Electroencephalographic and cerebral evoked potential studies showed findings associated with myoclonus epilepsy. Neuropathological examination of 1 of the brothers, who died at age 23 years, revealed widespread changes of neuroaxonal dystrophy without pigment deposition in the basal ganglia. We propose the term juvenile neuroaxonal dystrophy (JNAD) to distinguish this condition on clinical grounds from infantile neuroaxonal dystrophy on the one hand, and on clinical and pathological grounds from Hallervorden-Spatz disease on the other hand. JNAD, while exceedinly rare, must be considered in the differential diagnosis of the progressive myoclonus epilepsies.
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PMID:Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features. 10 87

Neuraminidase was assayed in the frozen autopsy tissues from three patients with I-cell disease and an adult patient with cherry-red spots, myoclonus, cerebellar ataxia and beta-galactosidase deficiency. Both diseases showed normal neuraminidase activity toward neuramine lactose and fetuin in cerebral gray matter, liver and kidney. These results suggest that the neuraminidase deficiency is limited only to some tissues and that this biochemical abnormality is not caused by a primary genetic mutation in these diseases.
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PMID:Neuraminidase in mucolipidoses: normal activity in frozen autopsy tissues from three patients with I-cell disease and adult beta-galactosidase deficiency. 11 81

Two adult siblings with progressive pyramidal and extrapyramidal lesions, and generalized muscle atrophy had a profound deficiency of beta-galactosidase in all the cells and body fluids examined. Neuraminidase activity was normal in fibroblasts. The fused fibroblasts of infantile GMl-gangliosidosis and each of these adult patients had beta-galactosidase activity as expected for the average value in a mixture of equal numbers of parental cells. However, there was a remarkable increase in the activity of beta-galactosidase when the cells from each of these cases were fused with those from the beta-galactosidase-deficient adult with cherry-red spots, cerebellar ataxia, myoclonus and neuraminidase deficiency in fibroblasts. It was concluded that the two siblings represent a new genetic variant (adult type) of GMl-gangliosidosis.
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PMID:Adult type GMl-gangliosidosis: a complementation study on somatic cell hybrids. 12 69

Two patients had an illness characterized by a positive family history, juvenile onset, macular cherry-red spots, myoclonus, generalized convulsions, and cerebellar ataxia. Neither had dementia, gargoyle facies, bone or joint deformities, or visceromegaly. Vacuolated lymphocytes were not seen in the peripheral blood or bone marrow. Specimens from the rectum and vermiform appendix showed Sudan black B-, Sudan III-, and PAS-positive granules within the neurons of the myenteric plexus. On electron microscopic examination, lysosome-like bodies, membranous cytoplasmic bodies, pleomorphic lamellated bodies, dense bodies, and lipofuscin-like bodies in the neurons were seen, with a suggestion of morphological transitional forms among them. Sialoglycopeptides, especially sialic acid, were increased in the urine, but excretion of acid mucopolysaccharides was normal. Assays of lysosomal enzymes in leucocytes showed normal enzymatic activity. On the basis of the clinical, biochemical, and histological results, we suggest that these two cases and four similar cases reported in the literature be classified differently from the previously described lipidoses, although it is not known whether these cases represent a new entity or merely a clinical variant of juvenile lipidosis.
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PMID:Familial juvenile neuronal storage disease. New disease or variant of juvenile lipidosis? 21 59

An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound deficiency of beta-galactosidase in liver and brain. Thrombocytopathy of undetermined etiology was evident since childhood, and the patient died of intracranial bleeding at age 22. Cerebral ganglioside pattern was normal. Hepatic mucopolysaccharides were not increased. GM1-gangliosidosis and mucopolysaccharidosis were ruled out by those analytical data. However, a large amount of amylopectin-like polysaccharide was found to be accumulated in liver. Hepatocyte contained numerous inclusion bodies with granulofibrillary structure similar to Lafora bodies, corpora amylacea, and inclusion bodies in glycogenosis type IV. This case seems to represent a new inborn metabolic disease closely related to GM1-gangliosidosis and mucopolysaccharidosis. The primary metabolic defect is not known at present.
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PMID:Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver. 40 3

Short-term visual-motor adaptation to magnifying spectacle lenses was studied in normal subjects and in patients with nonacute posterior fossa lesions. When normal subjects, looking through magnifying lenses, pointed open loop to targets without viewing their hands, they initially underestimated the distance (magnification effect). After a 20-minute close-loop training or adaptation exposure period during which they viewed the performance of their hands, a modified visual-motor scheme evolved, compensating for about half of the lens-induced pointing error (adaptation effect). Removal of the lenses after adaptation caused open-loop, overshooting pointing errors (adaptation after-effect). Four patients with remission of cerebellar signs showed normal visual-motor adaptive performance, evidence of ability to recalibrate gain. One patient with persisting cerebellar ataxia was unable to recalibrate gain during close-loop visual-motor training. His history of transient palatal myoclonus implicates a role for the cerebellar-olivary system in calibration of visual-motor gain.
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PMID:Visual-motor adaptation. Quantitative demonstration in patients with posterior fossa involvement. 43 35

We describe a patient with adult-onset neuronal storage disease characterized by myoclonus, cerebellar ataxia, convulsive seizures, cherry-red spots, skeletal dysplasia, mild gargoyle features, inguinal hernia, and angiokeratoma. Cytoplasmic inclusions consistent with lysosomal storage disease were demonstrated in neurons of the autonomic nervous system. Accumulation of GM3 and GM2 gangliosides was found in sympathetic ganglia but a catabolic disturbance of these gangliosides was ruled out by normal levels of GM3 ganglioside sialidase and N-acetyl-beta-hexosaminidase A activities. beta-Galactosidase activity was decreased in leukocytes and fibroblasts, but not in serum. GM1 gangliosidosis was ruled out by lipid analyses, and mucopolysaccharidosis by normal excretion of mucopolysaccharide in urine. Sialyl oligosaccharides were increased in urine and alpha-neuraminidase was deficient in fibroblasts. This disorder is considered to be an inherited metabolic disorder of sialyl glycoproteins and oligosaccharides due to deficiency of an alpha-neuraminidase.
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PMID:Adult type neuronal storage disease with neuraminidase deficiency. 53 22

The case is described of a woman of 26 suffering (like her mother, a brother and a sister) from a progressively degenerating cerebellar syndrome, at first considered to be hereditary cerebellar ataxia, but which, after action myoclonus appeared, was diagnosed as dyssynergia cerebellaris myoclonica (D.C.M.). Anatomical verification however revealed a syndrome of olivo-ponto-cerebellar atrophy comprising massive demyelinisation of the white matter of the cerebellum and of the cerebellopontine fibres; atrophy of the pontine nuclei; the cerebellar cortex itself was severely affected; moderate nigral lesions; marked spinal lesions of the cerebellospinal fasciculi and of the posterior columns; lesions of the anterior horns and of the bulbar nuclei; cortical chromatolysis. The fact that the dentate system remained unaffected, also noted in some cases of olivo-ponto-cerebellar atrophy with myoclonus, whilst in a number of other cases the lesion remains clinically silent, emphasises the difficulty in establishing an accurate correlation between myoclonus and dentate nucleus. Discussion of the nosological limits of D.C.M.: confirmed cases generally displayed lesions of the dentate system and hereditary degenerative spino-cerebellar lesions. The same clinical symptoms can be observed in cases which do not come under this classification--or even under that of degenerative conditions of the cerebellar system--and D.C.M. appears to be only a syndrome, the Ramsay-Hunt syndrome.
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PMID:[Familial olivo-ponto-cerebellar atrophy with myoclonus. Limits of cerebellar myoclonic dyssynergia (Ramsay-Hunt syndrome)]. 97 68


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